ReviewJournal of lipid research2011
Malformation syndromes caused by disorders of cholesterol synthesis.
Review in Journal of lipid research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 235 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
235 citing papers in PubMed, 1 synthesis or guideline pooled it, 471 citations in OpenAlex.
- Chemical Inhibition of Sterol Biosynthesis.Biomolecules · 2024Pooled it
- A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Trial
- Sterol pathway disruption in pregnancy: a link to autism.Molecular psychiatry · 2026Article
- Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.International journal of molecular sciences · 2026Review
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- The revised three-step detour pathway in dolichol biosynthesis is evolutionarily conserved in budding yeast.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Macrophage signaling and function are regulated by distinct sterol biochemistries.Journal of lipid research · 2026Article
- Asymmetric Reduction of Unactivated Alkenes.Chemistry (Weinheim an der Bergstrasse, Germany) · 2026Review
- Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.The Journal of steroid biochemistry and molecular biology · 2026Article
- Prenols and prenoic acids in metabolism, disease, and aging.Journal of lipid research · 2026Review
- Article
- Maternal cariprazine exposure effects on lactating offspring sterol biosynthesis.Translational psychiatry · 2026Article
- Identification of Cholesterol in Plaques of Atherosclerotic Using Magnetic Resonance Spectroscopy and 1D U-Net Architecture.Molecules (Basel, Switzerland) · 2026Article
- Preventing Age-Related Nuclear Cataract Development - Is Cholesterol the Key?Investigative ophthalmology & visual science · 2026Review
- Novel compound heterozygousFrontiers in endocrinology · 2026Review
- Lipid ciliology: specialized ciliary membrane lipids in physiology and disease.Frontiers in cell and developmental biology · 2026Review
- Developmental sterol biosynthesis inhibition: are prescription medications as safe as we think?Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Review
- Post-lanosterol inhibition profile based classification of commonly used prescription medications.Translational psychiatry · 2025Article
- Somatic mutations in TBX3 promote hepatic clonal expansion by accelerating VLDL secretion.The Journal of clinical investigation · 2025Article
175 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.